Canonical Allele Identifier: CA2695200535

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2673663
• ClinVar RCV Id: RCV003450300

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803553_47803554delinsA , CM000664.2:g.47803553_47803554delinsA	GRCh38
NC_000002.11:g.48030692_48030693delinsA , CM000664.1:g.48030692_48030693delinsA	GRCh37
NC_000002.10:g.47884196_47884197delinsA	NCBI36
NG_007111.1:g.25407_25408delinsA , LRG_219:g.25407_25408delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3009_3010delinsA (MSH6)	ENSP00000406248.2:p.Phe1005LeufsTer11
ENST00000420813.6:c.3009_3010delinsA (MSH6)	ENSP00000390382.2:p.Phe1005LeufsTer11
ENST00000455383.6:c.3009_3010delinsA (MSH6)	ENSP00000397484.2:p.Phe1005LeufsTer11
ENST00000700004.2:c.3173-2065_3173-2064delinsA (MSH6)	ENSP00000514752.2:n.3173-2065_3173-2064delinsA
ENST00000699999.1:n.3390_3391delinsA (MSH6)
ENST00000700000.1:c.1740_1741delinsA (MSH6)	ENSP00000514749.1:p.Phe582LeufsTer11
ENST00000700002.1:c.3312_3313delinsA (MSH6)	ENSP00000514750.1:p.Phe1106LeufsTer11
ENST00000700003.1:c.761_762delinsA (MSH6)	ENSP00000514751.1:n.761_762delinsA
ENST00000700004.1:c.2330-2065_2330-2064delinsA (MSH6)	ENSP00000514752.1:n.2330-2065_2330-2064delinsA
ENST00000700005.1:n.2157_2158delinsA (MSH6)
ENST00000700006.1:n.2154_2155delinsA (MSH6)
ENST00000700007.1:n.1311_1312delinsA (MSH6)
ENST00000700008.1:n.885_886delinsA (MSH6)
ENST00000700009.1:n.884_885delinsA (MSH6)
ENST00000700010.1:n.715_716delinsA (MSH6)
ENST00000700011.1:n.786_787delinsA (MSH6)
ENST00000234420.11:c.3306_3307delinsA (MSH6) MANE Select	ENSP00000234420.5:p.Phe1104LeufsTer11
ENST00000540021.6:c.2916_2917delinsA (MSH6)	ENSP00000446475.1:p.Phe974LeufsTer11
ENST00000652107.1:c.3009_3010delinsA (MSH6)	ENSP00000498629.1:p.Phe1005LeufsTer11
ENST00000673637.1:c.3009_3010delinsA (MSH6)	ENSP00000501310.1:p.Phe1005LeufsTer11
ENST00000234420.9:c.3306_3307delinsA (MSH6)	ENSP00000234420.4:p.Phe1104LeufsTer11
ENST00000405808.5:c.169+4641_169+4642delinsT (FBXO11)	ENSP00000385127.1:n.169+4641_169+4642delinsT
ENST00000434234.5:c.*124+4440_*124+4441delinsT (FBXO11)	ENSP00000402692.1:n.*124+4440_*124+4441delinsT
ENST00000445503.5:c.*2653_*2654delinsA (MSH6)	ENSP00000405294.1:n.*2653_*2654delinsA
ENST00000538136.1:c.2400_2401delinsA (MSH6)	ENSP00000438580.1:p.Phe802LeufsTer11
ENST00000540021.5:c.2916_2917delinsA (MSH6)	ENSP00000446475.1:p.Phe974LeufsTer11
ENST00000614496.4:c.2400_2401delinsA (MSH6)	ENSP00000477844.1:p.Phe802LeufsTer11
ENST00000622629.4:c.210_211delinsA (MSH6)	ENSP00000482078.1:p.Phe72LeufsTer11
NM_000179.2:c.3306_3307delinsA , LRG_219t1:c.3306_3307delinsA (MSH6)	NP_000170.1:p.Phe1104LeufsTer11
NM_001281492.1:c.2916_2917delinsA (MSH6)	NP_001268421.1:p.Phe974LeufsTer11
NM_001281493.1:c.2400_2401delinsA (MSH6)	NP_001268422.1:p.Phe802LeufsTer11
NM_001281494.1:c.2400_2401delinsA (MSH6)	NP_001268423.1:p.Phe802LeufsTer11
XM_005264271.1:c.3009_3010delinsA (MSH6)	XP_005264328.1:p.Phe1005LeufsTer11
XM_011532798.1:c.3123_3124delinsA (MSH6)	XP_011531100.1:p.Phe1043LeufsTer11
XM_011532799.1:c.3009_3010delinsA (MSH6)	XP_011531101.1:p.Phe1005LeufsTer11
XM_011532800.1:c.3009_3010delinsA (MSH6)	XP_011531102.1:p.Phe1005LeufsTer11
XM_024452819.1:c.3306_3307delinsA (MSH6)	XP_024308587.1:p.Phe1104LeufsTer11
XM_024452820.1:c.3123_3124delinsA (MSH6)	XP_024308588.1:p.Phe1043LeufsTer11
XM_024452821.1:c.3009_3010delinsA (MSH6)	XP_024308589.1:p.Phe1005LeufsTer11
XM_024452822.1:c.2400_2401delinsA (MSH6)	XP_024308590.1:p.Phe802LeufsTer11
NM_000179.3:c.3306_3307delinsA (MSH6) MANE Select	NP_000170.1:p.Phe1104LeufsTer11
NM_001281492.2:c.2916_2917delinsA (MSH6)	NP_001268421.1:p.Phe974LeufsTer11
NM_001281493.2:c.2400_2401delinsA (MSH6)	NP_001268422.1:p.Phe802LeufsTer11
NM_001281494.2:c.2400_2401delinsA (MSH6)	NP_001268423.1:p.Phe802LeufsTer11